ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)

gnomAD frequency: 0.00001  dbSNP: rs764433016
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706218 SCV000835257 likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-03-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs764433016, gnomAD 0.001%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 120 of the SRD5A2 protein (p.Thr120Pro). This missense change has been observed in individuals with 5-alpha-reductase deficiency (PMID: 21402750). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SRD5A2 protein function. ClinVar contains an entry for this variant (Variation ID: 582210).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000706218 SCV004190299 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-11-20 criteria provided, single submitter clinical testing ACMG:PS5 PM2 PM3 PP4 PP5

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.